Delayed diagnosis of cervical myelopathy in an adult with Weaver syndrome

A 39-year-old right-handed woman with Weaver syndrome was referred to a physiatrist due to progressive bilateral lower limb spasticity. Weaver syndrome is an autosomal dominant condition associated with rapid bony overgrowth causing intellectual impairment, digital contractures, and appendicular spasticity.1 Only 54 people worldwide are affected.2 This patient's history was significant for mild intellectual impairment, bilateral clubfoot with corrective surgeries, and a right total hip arthroplasty for dysplasia at age 36 years. The patient started walking at 14 months of age. Nine months prior to assessment, she had gradually lost ambulatory and transfer ability, leading to a hospital admission from home 7 months prior to assessment due to inability to live independently. During the 3-month hospital admission, the discharge summary indicated a “medical workup” had been performed, but no cause for loss of ambulatory ability was found and the patient was discharged to a long-term care facility. The workup included bloodwork but no electrodiagnostic testing or central neuraxis imaging. When seen in the physiatry clinic, the patient endorsed a gradual increase in bilateral lower limb tightness over the past 2 years with progressive left more than right hip and knee flexion contractures over the past year. She reported difficulty operating her right joystick-controlled power wheelchair over the last 3 months. There were no sensory symptoms in the upper or lower limbs. She had been using incontinence products since the hospitalization due to urinary frequency and urgency with urge and functional incontinence. There was no dysphagia, dysarthria, or bowel dysfunction reported. On physical examination, there was diffuse hyperreflexia with moderate left proximal upper limb spasticity and severe spasticity in the left more than right hip adductors, hip flexors, and knee flexors (Table 1, Figure 1). There was bilateral distal upper limb hypotonia with symmetric atrophy of the interossei, hypothenar, and thenar eminences. Bilateral upper limb power was largely normal although there was significant weakness in bilateral abductor digiti minimi, first dorsal interosseous, and abductor pollicis brevis. There was less than antigravity strength in the lower limbs. The patient reported normal light touch and pinprick sensation in all limbs. Vibration sensation was reported as normal in the upper limbs but reduced at the great toe interphalangeal joints bilaterally and normal at the medial malleoli bilaterally. As Weaver syndrome does not cause polyneuropathy or distal myopathy,3 the patient was referred for electrodiagnostic testing for the hand findings. Routine upper limb sensory and motor nerve conduction studies were normal. Electromyography was poorly tolerated due to anxiety so only the first dorsal interosseous of the hand was needled. This showed normal insertional activity, no spontaneous activity, and reduced activation. Non-contrast magnetic resonance imaging (MRI) of the cervical spine was also performed. This showed multilevel spondylosis causing multilevel spinal cord compression, most severe at C3–C4 (Figure 2), with myelomalacia at this level. Within 5 weeks of the MRI, the patient underwent a posterior C3–C7 laminectomy with C3–T2 fusion. She continues to be followed and her neurological signs and symptoms have remained stable. This is the first reported case of cervical myelopathy in an adult with Weaver syndrome. Cervical kyphosis, early cervical osteoarthritis, and lack of development of the midcervical vertebral bodies have been reported in Weaver syndrome.2 Atlantoaxial instability has also been reported in six children with Weaver syndrome.4, 5 Any of these conditions may lead to cervical myelopathy, which can present with upper and/or lower limb spasticity, upper limb weakness, gait impairment, dysphagia, dysarthria, and bowel and/or bladder dysfunction.6 Although spasticity can occur in Weaver Syndrome, this tends to be mild and nonprogressive.3 This patient's spasticity was severe and progressive, in keeping with a diagnosis outside of Weaver syndrome. Although cervical myelopathy is a common cause of loss of ambulatory ability,7 this patient's myelopathy was undetected during a 3-month acute care hospitalization for loss of independent ambulation ability. Ascertainment bias, where a physician's thinking is shaped by societal stereotypes,8 may have led to assumptions about the quality of life of an individual with a genetic condition and mild intellectual impairment who was now using a wheelchair. This may have prevented the health care team from considering the same standard investigations they might have considered for an individual without impairments. As physiatrists regularly work with individuals with impairments, we should understand how cognitive biases contribute to diagnostic and therapeutic decision-making. Physiatrists are well suited to act as advocates to increase awareness of such biases that may affect patient care. This case demonstrates the importance of maintaining a high level of suspicion for cervical myelopathy in patients with Weaver syndrome who display progressive spasticity, worsening ambulatory ability, decreasing hand function, or changes in bladder function. Early recognition of cervical myelopathy in Weaver syndrome may lead to interventions to prevent functional deterioration. We would like to thank the patient for sharing their story with this audience. The authors have no conflicts of interest to disclose. The patient discussed in the manuscript has provided informed written consent for the publication of this case report.

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